Varaico: Literature-Extracted Genetic Variants

Gene:CAD
Variant:p.R2024Q
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CAD

NM_004341.5:p.R2024Q

Associated Papers

CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.

Yarahmadi SG et al.

Bmc Pediatrics, 2022

Pyrimidine Biosynthetic Enzyme CAD: Its Function, Regulation, and Diagnostic Potential.

Li G et al.

International Journal of Molecular Sciences, 2021

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Ng BG et al.

Human Molecular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."